"Ethics in Using Genetic Information: Attitudes and Preferences of Physicians and Testees"
Patients’ Questionnaire
ANNEX 2.PATIENT’S FORM
Dear Participant,
For the last 20 years, there have been remarkable developments in human genetics field. These developments, particularly ones experienced in diagnosis of genetic disorders, lead to some ethical/moral issues. The focus of the debates is on to whom the genetic information belongs and with whom it should be shared. With this study, it’s aimed to learn the attitudes and preferences of physicians and patients about disclosure and sharing of genetic information. In line with the information to be obtained in this study, we aim to make a contribution to formation of rules for Turkey.
I. DEMOGRAPHIC INFORMATION
1. Sex:MaleFemale
2. Age: ………………….
3. Marital Status:Married Single
4. Child:HaveDon’t have
5. How important is religion in your life?
ImportantNeither important nor unimportantUnimportant
6. How can you describe your political view with one word?…………….
7. Are you employed?YesNo
8. Occupation: …………………………
9. Educational Background:
IlliterateLiterateElementary SchoolSecondary School
High SchoolAssociate DegreeUndergraduateOther …………….
10. How much information do you have about genetic disorders and genetic tests?
Sufficient (good enough)Medium LevelInsufficientNone at all
II. TEST INFORMATION
11. Were you informed about the test to be conducted?
YesNo
12. If yes, by whom?
The doctor who suggested the test
The specialist who will carry out the test
Other (please indicate) ………………………
13. Would like to learn the result of the genetic test to be made?
YesNo13a. Why? ……………………………..
III. PREFERENCES WITH REGARDS TO USAGE OF GENETIC INFORMATION
14. Do you think genetic information is different from the other medical information regarding disorders and cures?
YesNo14a. Why? ………………………
15. To whom do you think result to be obtained by the test belong?
To the personTo the familyTo the ethnic group
To stateTo humanity
16. With whom would you permit your test results to be shared? (If needed, you may choose more than one option)
My spouse/My partnerMy family members with whom I have genetic bond (do you have a limitation)
Other people with whom I have social bonds
My insurance companyMy employerOther doctors
No one
17. As from what age do you think genetic information of a minor can be shared with him/her? …………………..
18. Do you believe that you have right not to share information to be obtained as a result of the test with your family members, even when the results concern them too?
YesNo
19. In which situation(s) do you think it’s acceptable to inform other family members who might be affected by this information? (If needed, you may choose more than one option)
In situations in which disorder can be taken under control by early diagnosis
In situations in which quality or time of life can be increased by early treatment
In situations in which quality or time of life can be increased by protective measures
In situations in which gender reassignment is in question
In situations in which career choices might be effected
In situations in which spouse choices might be effected
In situations in which choices regarding reproduction might be effected
In every situation in which information regarding my family members is found even if there is no effect
20. By whom should the test results be announced to the patient?
The doctor who suggested the test
The specialist who will carry out the test
Genetic advisor who has a special training
Other (please indicate) ………………………
21. What is the best way to maintain secrecy of genetic test information?
Genetic information should be protected/preserved as all other medical records are protected
Testing private institution or public body should take special precautions to protect genetic information
Government should regulate and audit protection of genetic information
22. Should there be any rules of related health institution or government regarding how genetic information will be used?
YesNo
23. Do you know what genetic counseling is?
YesNo
24. Do you think government should provide genetic counseling to anyone who will make genetic test?
YesNo
IV. CASES: Below mentioned cases are the cases scripted considering the ethic subjects. Real patient or doctor names were not used. Please try to put yourself in the person’s place who has taken the test and choose the most appropriate option.
CASE A:Nurgül, age 26, had a premature baby. Doctor, with the suspect that baby might have Down syndrome, suggested a test and the result of the test confirmed that Doctor’s suspect was right. Having high gestational age and some disorders father or mother might be carrying can be counted as two of the reasons of Down syndrome. Since Nurgül wanted to have a second baby, she insisted on searching for why the baby had Down syndrome and requested genetic tests to be applied to her and her spouse. Father reluctantly accepted the test upon insistence of his spouse. As a result of the test, it was found out that genetic disorder of the father caused baby’s disorder. Father, aged 30, had younger brothers. Doctor suggested the father to inform his spouse and brothers about the situation. But father refused to inform them claiming that he didn’t want any other baby and he didn’t get along well with his brothers.
25. Doctor should respect father’s decision
I agreeI neither agree nor disagree (neutral)I disagree
26. Doctor should inform Nurgül even if the father doesn’t want
I agreeI neither agree nor disagree (neutral)I disagree
27. Doctor should not disclose the truth in order to protect the unity of family
I agreeI neither agree nor disagree (neutral)I disagree
28. Doctor should also inform the father’s brothers
I agreeI neither agree nor disagree (neutral)I disagree
29. Father should be obliged to inform his brothers and direct them to be tested too
I agreeI neither agree nor disagree (neutral)I disagree
30. In such situations, state must be obliged to make the tests free of charge
I agreeI neither agree nor disagree (neutral)I disagree
CASE B. Fevziye, 21 years old, consulted a gynecologist due to differences in her physical appearance, genitals and in her feelings. It was determined that the patient had pseudohermaphrodism and seen upon the tests that she had male chromosomes. But she had a disorder which prevented growth of male genitals. When the results were discussed with Fevziye, she mentioned that she has expected such a result and she already emotionally felt that she was a man. The doctor suspected that Sükrüye, 16 years old sister of Fevziye might have same mutation due to her appearance and suggested the same test to be applied for her. Because there was the 1/8 possibility that her sister might also have the mutation. Fevziye strongly objected this suggestion. She promised that she would make the tests applied after her sister graduated from high-school. However, Dr. Erol insisted that the tests should be applied because a delay in the tests might hurt her sister and she might have emotional problems.
31. The doctor should respect the decision of Fevziye
I agreeI neither agree nor disagree (neutral)I disagree
32. The doctor should contact the family members and tell them that tests should be applied to
Sükrüye
I agreeI neither agree nor disagree (neutral)I disagree
33. The doctor should contact Sükrüye and tell her that same tests applied to her sister/brother should be applied to her too
I agreeI neither agree nor disagree (neutral)I disagree
34. It should be the doctor’s legal obligation to inform the family even if Fevziye doesn’t accept
I agreeI neither agree nor disagree (neutral)I disagree
35. It should be Fevziye’s responsibility to inform her sister and to encourage her about the test
I agreeI neither agree nor disagree (neutral)I disagree
36. In such situations, state must be obliged to make the tests free of charge
I agreeI neither agree nor disagree (neutral)I disagree
CASE C. Can, a fifteen months infant, was brought to the hospital with the complaints of breathlessness, restlessness, sleeplessness since he was four months. It was learnt that blood transfusion was made a couple of times. Child’s doctor made thalassemia major diagnosis, a heavy blood disorder. This disorder doesn’t show itself at carrying individuals. But it occurs at the children who have received the disorderd genes both from mother and from father. Relatives of carrying individuals might also be carrying persons. Even though parents felt very sad about their child, they didn’t want to inform the other family members in order to prevent negative pressure to be imposed by them.
37. The doctor should give information about prenatal diagnosis test to the mother for the pregnancy she was planning
I agreeI neither agree nor disagree (neutral)I disagree
38. The doctor should try to convince the couple that they should not have a second baby which will also have thalassemia major disorder.
I agreeI neither agree nor disagree (neutral)I disagree
39. The doctor should warn the couple about informing their relatives about the disorder
I agreeI neither agree nor disagree (neutral)I disagree
40. The doctor should make sure that the relatives of the couple will be warned
I agreeI neither agree nor disagree (neutral)I disagree
41. It should be the doctor’s legal obligation to inform the relatives of the couple
I agreeI neither agree nor disagree (neutral)I disagree
42. State should be obliged to make such tests free of charge in order to protect the health of posterity
I agreeI neither agree nor disagree (neutral)I disagree
CASE D. Mustafa, 14 years old, consulted to a university hospital due to increasing blood pressure. Mustafa was short in terms of his age and the doctor made chromosome analysis since he thought there might be growth deficiency. As a result of the test, it was seen that Mustafa had male chromosomes. Child doctor learnt that the patient had congenital adrenal hyperplasia diagnosis from a different university hospital which made test during his infancy. This disorder occurs as a result of excessive growth of suprarenal glands and lack of some of enzymes there and causes pseudohermaphrodism. Upon meeting with his colleague who had made the diagnosis, the doctor learnt that Mustafa’s cousin had the same diagnosis as well but raised as female. The doctor shared this information with Mustafa’s parents. Mustafa’s father saw his brother with him who hasn’t been talking for years and talked about the disorderboth their children had. Thereupon, parents of Ayse entered a lawsuit against the university hospital which made the diagnosis on the grounds that the hospital has shared information belonged to the parents without their permission/consent.
43. Doctor who has made the first diagnosis shouldn’t have shared the information without prior permission of related persons
I agreeI neither agree nor disagree (neutral)I disagree
44. The doctor shouldn’t have presented the information she has received from her colleague to the patient’s family
I agreeI neither agree nor disagree (neutral)I disagree
45. The doctor should have told genetic information of the patient only to Mustafa
I agreeI neither agree nor disagree (neutral)I disagree
46. Uncle should have shared the information which also concerns Mustafa with the family of
his brother
I agreeI neither agree nor disagree (neutral)I disagree
47. Genetic information should be shared in accordance with legal regulations, even when it’s between colleagues
I agreeI neither agree nor disagree (neutral)I disagree
48. Hospitals/Doctors should be obliged to secure the genetic information of patients
I agreeI neither agree nor disagree (neutral)I disagree
48. By which medical specialty the patient was directed to test?
GynecologyPediatry
49. What is the type of the test to be made?
Molecular geneticsPrenatal TestingCytogenetics
50. The issue was discussed with…
The patientPatient’s mother Patient’s father
51. What is the suspected situation?
52. What is the type of the patient insurance?
Private insuranceState insurance
Please write down any information or remark you would like to state.
Thank you very much for your contributions.
Res. Asst. Aslihan AKPINAR
Address: Kocaeli University, Medical Faculty, Department of Medical History and Ethics, 41380 Umuttepe – Izmit
Tel:0 262 303 74 50
E-mail:
Kocaeli University, Faculty of Medicine, Department of History of Medicine and Ethics